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Article

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

22 Jul 2015

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Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 26197979
DOI: 10.1038/ejhg.2015.156

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Related research

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Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosumPMID 26197979Read ↗

Genetic heterogeneity in corpus callosum agenesisSemantic proximity Read ↗

Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephalySemantic proximity Read ↗

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.Semantic proximity Read ↗

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Semantic proximity Read ↗

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.Semantic proximity Read ↗

Identification of genomic loci contributing to agenesis of the corpus callosum.Semantic proximity Read ↗

Agenesis of the corpus callosum: What to tell expecting parents?Semantic proximity Read ↗

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.Semantic proximity Read ↗

Fetal Corpus Callosum AnomaliesSemantic proximity Read ↗

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.Semantic proximity Read ↗

Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.Semantic proximity Read ↗

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.Semantic proximity Read ↗

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